UGT2B17 — 81 ClinVar variants
All ClinVar germline UGT2B17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
3 Conflicting · 11 Benign · 10 Likely benign · 57 Uncertain significance
Full UGT2B17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UGT2B17 p.Ala398Glu Uncertain significance Single submitter
- UGT2B17 p.Ala413Asp Uncertain significance Single submitter
- UGT2B17 p.Ala461Glu Uncertain significance Single submitter
- UGT2B17 p.Arg269His Uncertain significance Single submitter
- UGT2B17 p.Arg470Leu Uncertain significance Single submitter
- UGT2B17 p.Asp229Glu Uncertain significance Single submitter
- UGT2B17 p.Asp493Glu Uncertain significance Single submitter
- UGT2B17 p.Glu163Gln Uncertain significance Single submitter
- UGT2B17 p.Ile167Thr Uncertain significance Single submitter
- UGT2B17 p.Ile37Leu Uncertain significance Single submitter
- UGT2B17 p.Ile389Phe Uncertain significance Single submitter
- UGT2B17 p.Ile487Met Uncertain significance Single submitter
- UGT2B17 p.Leu426Phe Uncertain significance Single submitter
- UGT2B17 p.Leu499Met Uncertain significance Single submitter
- UGT2B17 p.Leu81Phe Uncertain significance Single submitter
- UGT2B17 p.Lys183Gln Uncertain significance Single submitter
- UGT2B17 p.Lys183Glu Uncertain significance Single submitter
- UGT2B17 p.Lys232Arg Uncertain significance Single submitter
- UGT2B17 p.Lys25Asn Uncertain significance Single submitter
- UGT2B17 p.Lys68Gln Uncertain significance Single submitter
- UGT2B17 p.Met215Thr Uncertain significance Single submitter
- UGT2B17 p.Met317Thr Uncertain significance Single submitter
- UGT2B17 p.Met317Val Uncertain significance Single submitter
- UGT2B17 p.Met6Lys Uncertain significance Single submitter
- UGT2B17 p.Phe106Cys Uncertain significance Single submitter
- UGT2B17 p.Phe9Ser Uncertain significance Single submitter
- UGT2B17 p.Pro196Arg Uncertain significance Single submitter
- UGT2B17 p.Pro390Ser Uncertain significance Single submitter
- UGT2B17 p.Ser67Arg Uncertain significance Single submitter
- UGT2B17 p.Thr180Ala Uncertain significance Single submitter
- UGT2B17 p.Thr41Ile Uncertain significance Single submitter
- UGT2B17 p.Trp5Leu Uncertain significance Single submitter
- UGT2B17 p.Tyr99Ser Uncertain significance Single submitter
- UGT2B17 p.Val47Leu Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- UGT2B17 p.Ala286Thr Uncertain significance Single submitter
- UGT2B17 p.Ala481Asp Uncertain significance Single submitter
- UGT2B17 p.Ala60Val Uncertain significance Single submitter
- UGT2B17 p.Arg174His Uncertain significance Single submitter
- UGT2B17 p.Arg470His Uncertain significance Single submitter
- UGT2B17 p.Asp276Tyr Uncertain significance Single submitter
- UGT2B17 p.Asp436Gly Uncertain significance Single submitter
- UGT2B17 p.Gln453Pro Uncertain significance Single submitter
- UGT2B17 p.Glu45Gln Uncertain significance Single submitter
- UGT2B17 p.Glu52Gly Uncertain significance Single submitter
- UGT2B17 p.Glu52Lys Uncertain significance Single submitter
- UGT2B17 p.Gly242Arg Likely benign Single submitter
- UGT2B17 p.Leu137Phe Uncertain significance Single submitter
- UGT2B17 p.Met317Lys Uncertain significance Single submitter
- UGT2B17 p.Phe90Leu Likely benign Single submitter
- UGT2B17 p.Ser238Gly Uncertain significance Single submitter
- UGT2B17 p.Ser422Pro Uncertain significance Single submitter
- UGT2B17 p.Ser423Arg Uncertain significance Single submitter
- UGT2B17 p.Thr374Ala Uncertain significance Single submitter
- UGT2B17 p.Thr378Ala Uncertain significance Single submitter
- UGT2B17 p.Tyr217Asp Uncertain significance Single submitter
- UGT2B17 p.Tyr355His Uncertain significance Single submitter
- UGT2B17 p.Val53Met Uncertain significance Single submitter
All UGT2B17 variants
Conflicting classifications of pathogenicity 3
- p.Leu219Phe Single submitter ⚠
- p.Leu258Pro Single submitter ⚠
- p.Val455Leu Single submitter ⚠
Benign 11
- p.Asp85Tyr Multiple submitters
- p.His450Tyr Multiple submitters
- p.Val181Ile Multiple submitters
- c.-64-91A>G Single submitter
- p.Gly380Asp Single submitter
- p.Ala384= No assertion criteria UGT2B17-related disorder
- p.Asp147Val No assertion criteria UGT2B17-related disorder
- p.Glu163= No assertion criteria UGT2B17-related disorder
- p.Phe89Val No assertion criteria UGT2B17-related disorder
- p.Tyr109Ser No assertion criteria UGT2B17-related disorder
- p.Tyr355= No assertion criteria UGT2B17-related disorder
Likely benign 10
- p.Asn104fs Multiple submitters
- p.Leu289= Multiple submitters
- p.Ala131Val Single submitter
- p.Ala153= Single submitter
- p.Ala405Val Single submitter
- p.Gly242Arg Single submitter ⚠
- p.Leu446Ser Single submitter
- p.Phe90Leu Single submitter ⚠
- p.Pro454= No assertion criteria UGT2B17-related disorder
- p.Tyr99= No assertion criteria UGT2B17-related disorder
Uncertain significance 57
- p.Ala286Thr Single submitter ⚠
- p.Ala384Thr Single submitter
- p.Ala398Glu Single submitter ⚠
- p.Ala413Asp Single submitter ⚠
- p.Ala461Glu Single submitter ⚠
- p.Ala481Asp Single submitter ⚠
- p.Ala60Val Single submitter ⚠
- p.Arg174His Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg470His Single submitter ⚠
- p.Arg470Leu Single submitter ⚠
- p.Asp229Glu Single submitter ⚠
- p.Asp276Tyr Single submitter ⚠
- p.Asp436Gly Single submitter ⚠
- p.Asp493Glu Single submitter ⚠
- p.Gln453Pro Single submitter ⚠
- p.Glu163Gln Single submitter ⚠
- p.Glu45Gln Single submitter ⚠
- p.Glu52Gly Single submitter ⚠
- p.Glu52Lys Single submitter ⚠
- p.Ile167Thr Single submitter ⚠
- p.Ile37Leu Single submitter ⚠
- p.Ile389Phe Single submitter ⚠
- p.Ile487Met Single submitter ⚠
- p.Leu137Phe Single submitter ⚠
- p.Leu426Phe Single submitter ⚠
- p.Leu499Met Single submitter ⚠
- p.Leu81Phe Single submitter ⚠
- p.Lys183Gln Single submitter ⚠
- p.Lys183Glu Single submitter ⚠
- p.Lys232Arg Single submitter ⚠
- p.Lys25Asn Single submitter ⚠
- p.Lys68Gln Single submitter ⚠
- p.Met215Thr Single submitter ⚠
- p.Met317Lys Single submitter ⚠
- p.Met317Thr Single submitter ⚠
- p.Met317Val Single submitter ⚠
- p.Met6Lys Single submitter ⚠
- p.Phe106Cys Single submitter ⚠
- p.Phe9Ser Single submitter ⚠
- p.Pro196Arg Single submitter ⚠
- p.Pro390Ser Single submitter ⚠
- p.Ser238Gly Single submitter ⚠
- p.Ser422Pro Single submitter ⚠
- p.Ser423Arg Single submitter ⚠
- p.Ser67Arg Single submitter ⚠
- p.Thr180Ala Single submitter ⚠
- p.Thr374Ala Single submitter ⚠
- p.Thr378Ala Single submitter ⚠
- p.Thr41Ile Single submitter ⚠
- p.Trp5Leu Single submitter ⚠
- p.Tyr217Asp Single submitter ⚠
- p.Tyr355His Single submitter ⚠
- p.Tyr99Ser Single submitter ⚠
- p.Val47Leu Single submitter ⚠
- p.Val53Met Single submitter ⚠
- p.Met1Thr No assertion criteria